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International Journal of Molecular Sciences
|
February 26, 2022
A Novel, Apparently Silent Variant in <i>MFSD8</i> Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability
Milda Reith, Lena Zeltner, Karin Schäferhoff, et al.
Journal of Glaucoma
|
June 15, 2010
Apolipoprotein E genotypes in pseudoexfoliation syndrome and pseudoexfoliation glaucoma
Mandy Krumbiegel, Francesca Pasutto, Christian Y Mardin, et al.
Plos One
|
July 9, 2021
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants
Nicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, et al.
Orphanet Journal of Rare Diseases
|
August 4, 2016
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
Lucia Mauri, Steffen Uebe, Heinrich Sticht, et al.
BMC Ophthalmology
|
April 24, 2025
Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies
Lasse Wolfram, David A Merle, Laura Kühlewein, et al.
Investigative Ophthalmology & Visual Science
|
February 3, 2009
Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma
Mandy Krumbiegel, Francesca Pasutto, Christian Y Mardin, et al.
Human Mutation
|
June 13, 2020
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period
Nicole Weisschuh, Carolin D Obermaier, Florian Battke, et al.
Translational Vision Science & Technology
|
December 28, 2019
Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by <i>CRB1</i> Mutations
Krunoslav T Stingl, Laura Kuehlewein, Nicole Weisschuh, et al.
Molecular Vision
|
May 18, 2018
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy
Anna Wawrocka, Anna Skorczyk-Werner, Katarzyna Wicher, et al.
Clinical Genetics
|
November 14, 2019
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
Miriam Bauwens, Stephan Storch, Nicole Weisschuh, et al.
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Search research articles
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Showing results (41-50 of 89) with videos related to
Sort By:
Page
of 9
International Journal of Molecular Sciences
|
February 26, 2022
A Novel, Apparently Silent Variant in <i>MFSD8</i> Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability
Milda Reith, Lena Zeltner, Karin Schäferhoff, et al.
Journal of Glaucoma
|
June 15, 2010
Apolipoprotein E genotypes in pseudoexfoliation syndrome and pseudoexfoliation glaucoma
Mandy Krumbiegel, Francesca Pasutto, Christian Y Mardin, et al.
Plos One
|
July 9, 2021
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants
Nicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, et al.
Orphanet Journal of Rare Diseases
|
August 4, 2016
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
Lucia Mauri, Steffen Uebe, Heinrich Sticht, et al.
BMC Ophthalmology
|
April 24, 2025
Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies
Lasse Wolfram, David A Merle, Laura Kühlewein, et al.
Investigative Ophthalmology & Visual Science
|
February 3, 2009
Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma
Mandy Krumbiegel, Francesca Pasutto, Christian Y Mardin, et al.
Human Mutation
|
June 13, 2020
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period
Nicole Weisschuh, Carolin D Obermaier, Florian Battke, et al.
Translational Vision Science & Technology
|
December 28, 2019
Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by <i>CRB1</i> Mutations
Krunoslav T Stingl, Laura Kuehlewein, Nicole Weisschuh, et al.
Molecular Vision
|
May 18, 2018
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy
Anna Wawrocka, Anna Skorczyk-Werner, Katarzyna Wicher, et al.
Clinical Genetics
|
November 14, 2019
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
Miriam Bauwens, Stephan Storch, Nicole Weisschuh, et al.
Page
of 9